### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = TMEM165)
# charset = UTF-8
## Genes ## Do not remove or alter this header ##
## Count = 1
"{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}"
"TMEM165" "transmembrane protein 165" "4" "q12" "unknown" "NG_032881.1" "UD_136022187257" "" "http://www.LOVD.nl/TMEM165" "Congenital Disorder of Glycosylation pages " "1" "30760" "55858" "614726" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/TMEM165_codingDNA.html" "1" "" "![\"Euroglycanet](\"https://grenada.lumc.nl/LOVD2/mendelian_genes/uploads/Euroglycanet.jpeg\")
Congenital Disorders of Glycosylation (CDG)
Some variants in this database are copied from the CDG database at the Euroglycanet site." "-1" "" "-1" "00001" "2012-09-05 00:00:00" "00006" "2015-03-20 19:53:53" "00000" "2025-05-05 21:14:00"
## Transcripts ## Do not remove or alter this header ##
## Count = 1
"{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00021402" "TMEM165" "transcript variant 1" "002" "NM_018475.4" "" "NP_060945.2" "" "" "" "-277" "1698" "975" "56262080" "56292342" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 2
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49"
"03713" "CDG2K" "glycosylation, congenital disorder of, type IIk (CDG-2K)" "AR" "614727" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}" "{{diseaseid}}"
"TMEM165" "00139"
"TMEM165" "03713"
## Individuals ## Do not remove or alter this header ##
## Count = 0
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 0
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00139, 03713
## Count = 0
## Screenings ## Do not remove or alter this header ##
## Count = 0
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 0
## Variants_On_Genome ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Count = 15
"{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}"
"0000248538" "0" "10" "4" "56262374" "56262374" "subst" "0.704161" "02325" "TMEM165_000001" "g.56262374A>G" "" "" "" "TMEM165(NM_018475.5):c.18A>G (p.P6=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55396207A>G" "" "benign" ""
"0000311870" "0" "10" "4" "56291621" "56291622" "del" "0.372816" "02325" "TMEM165_000003" "g.56291621_56291622del" "" "" "" "TMEM165(NM_018475.5):c.*2_*3delAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55425454_55425455del" "" "benign" ""
"0000311871" "0" "10" "4" "56291528" "56291528" "subst" "0.407173" "02325" "TMEM165_000002" "g.56291528T>C" "" "" "" "TMEM165(NM_018475.5):c.899-15T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55425361T>C" "" "benign" ""
"0000341820" "0" "90" "4" "56277949" "56277949" "subst" "1.62483E-5" "02327" "TMEM165_000004" "g.56277949C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55411782C>T" "" "pathogenic" ""
"0000609243" "0" "30" "4" "56277867" "56277867" "subst" "0.00188071" "01943" "TMEM165_000006" "g.56277867C>T" "" "" "" "TMEM165(NM_018475.4):c.294C>T (p.V98=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55411700C>T" "" "likely benign" ""
"0000963195" "0" "30" "4" "56290736" "56290736" "subst" "4.06382E-6" "01804" "CLOCK_000002" "g.56290736T>C" "" "" "" "TMEM165(NM_018475.3):c.824T>C (p.(Val275Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000976315" "0" "50" "4" "56283407" "56283407" "subst" "4.53052E-5" "01804" "TMEM165_000007" "g.56283407A>G" "" "" "" "TMEM165(NM_018475.5):c.602A>G (p.(Asp201Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000976316" "0" "30" "4" "56283963" "56283966" "del" "0" "01804" "TMEM165_000008" "g.56283963_56283966del" "" "" "" "TMEM165(NM_018475.5):c.610-7_610-4del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000994341" "0" "50" "4" "56262467" "56262467" "subst" "0" "01804" "TMEM165_000009" "g.56262467A>C" "" "" "" "TMEM165(NM_018475.4):c.111A>C (p.(Glu37Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001034595" "0" "30" "4" "56277776" "56277776" "dup" "0" "01804" "TMEM165_000010" "g.56277776dup" "" "" "" "TMEM165(NM_018475.5):c.208-5dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001034596" "0" "50" "4" "56277964" "56277964" "subst" "0" "01804" "TMEM165_000011" "g.56277964G>T" "" "" "" "TMEM165(NM_018475.5):c.391G>T (p.(Ala131Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001034597" "0" "50" "4" "56277968" "56277975" "delins" "0" "01804" "TMEM165_000012" "g.56277968_56277975delinsTTGCAATT" "" "" "" "TMEM165(NM_018475.5):c.395_402delinsTTGCAATT (p.(Gly132_Met134delinsValAlaIle))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001034598" "0" "50" "4" "56283403" "56283403" "subst" "0" "01804" "TMEM165_000013" "g.56283403A>G" "" "" "" "TMEM165(NM_018475.5):c.598A>G (p.(Lys200Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001034599" "0" "50" "4" "56283977" "56283977" "subst" "8.66634E-6" "01804" "TMEM165_000014" "g.56283977G>A" "" "" "" "TMEM165(NM_018475.5):c.617G>A (p.(Arg206Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001034600" "0" "30" "4" "56291536" "56291537" "del" "0" "01804" "CLOCK_000003" "g.56291536_56291537del" "" "" "" "TMEM165(NM_018475.5):c.899-7_899-6del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes TMEM165
## Count = 15
"{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}"
"0000248538" "00021402" "10" "18" "0" "18" "0" "c.18A>G" "r.(?)" "p.(Pro6=)" ""
"0000311870" "00021402" "10" "977" "0" "978" "0" "c.*2_*3del" "r.(=)" "p.(=)" ""
"0000311871" "00021402" "10" "899" "-15" "899" "-15" "c.899-15T>C" "r.(=)" "p.(=)" ""
"0000341820" "00021402" "90" "376" "0" "376" "0" "c.376C>T" "r.(?)" "p.(Arg126Cys)" ""
"0000609243" "00021402" "30" "294" "0" "294" "0" "c.294C>T" "r.(?)" "p.(Val98=)" ""
"0000963195" "00021402" "30" "824" "0" "824" "0" "c.824T>C" "r.(?)" "p.(Val275Ala)" ""
"0000976315" "00021402" "50" "602" "0" "602" "0" "c.602A>G" "r.(?)" "p.(Asp201Gly)" ""
"0000976316" "00021402" "30" "610" "-7" "610" "-4" "c.610-7_610-4del" "r.spl?" "p.?" ""
"0000994341" "00021402" "50" "111" "0" "111" "0" "c.111A>C" "r.(?)" "p.(Glu37Asp)" ""
"0001034595" "00021402" "30" "208" "-5" "208" "-5" "c.208-5dup" "r.spl?" "p.?" ""
"0001034596" "00021402" "50" "391" "0" "391" "0" "c.391G>T" "r.(?)" "p.(Ala131Ser)" ""
"0001034597" "00021402" "50" "395" "0" "402" "0" "c.395_402delinsTTGCAATT" "r.(?)" "p.(Gly132_Met134delinsValAlaIle)" ""
"0001034598" "00021402" "50" "598" "0" "598" "0" "c.598A>G" "r.(?)" "p.(Lys200Glu)" ""
"0001034599" "00021402" "50" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Arg206Gln)" ""
"0001034600" "00021402" "30" "899" "-7" "899" "-6" "c.899-7_899-6del" "r.(=)" "p.(=)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 0